UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

Thompson, Deborah J.; Wells, Daniel; Selzam, Saskia; Peneva, Iliana; Moore, Rachel; Sharp, Kevin; Tarran, William A.; Beard, Edward J.; Riveros-Mckay, Fernando; Giner-Delgado, Carla; Palmer, Duncan; Seth, Priyanka; Harrison, James; Futema, Marta; Genomics England Research Consortium; McVean, Gil; Plagnol, Vincent; Donnelly, Peter; Weale, Michael E.

doi:10.1101/2022.06.16.22276246

PreprintCited by 280Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestockGenomics and Rare Diseases

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

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Thompson, Deborah J., Wells, Daniel, Selzam, Saskia, Peneva, Iliana, Moore, Rachel, Sharp, Kevin, Tarran, William A., Beard, Edward J. +11 more·2022·medRxiv

DOI 10.1101/2022.06.16.22276246

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Abstract

We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in UKB. We also release a benchmarking software tool to enable like-for-like performance evaluation for different PRSs for the same disease or trait. Extensive benchmarking shows the PRSs in the UKB Release to outperform a broad set of 81 published PRSs. For many of the diseases and traits we also validate the PRS algorithms in other cohorts. The availability of PRSs for 53 traits on the same set of individuals also allows a systematic assessment of their properties, and the increased power of these PRSs increases the evidence for their potential clinical benefit.

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The PRS was derived using external GWAS training data and has been validated for its association with late-onset Alzheimer's disease within the UK Biobank.
“The PRS was derived using external Genome-wide association study (GWAS) training data and has been validated for its association with Late-Onset Alzheimer’s Disease (LOAD) within the UKB.80”
From TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice (2025) · cites this paper as [80]
The Performance of the PRS Release in UK Biobank section says the Standard PRS was derived from external GWAS sources and evaluated in UKB; the Methods figure caption identifies Alzheimer’s disease among the diseases considered. The copy does not identify a specifically late-onset Alzheimer’s disease phenotype or report a LOAD-specific association. It also distinguishes the Enhanced PRS, which was trained using both external and UKB data. (LLM, conf=0.82)
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The UK Biobank resource with deep phenotyping and genomic data
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Method
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Statistical Review
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Method
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“We compared the performance of MILTON models trained on 67 quantitative traits (Methods) with those trained on the respective disease-specific PRS 13 of a given phenotype, or all 36 standard PRSs available in the UKB.”
Influential
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“While PRSs can theoretically be adjusted for ancestry (Khera et al. , 2019; Thompson et al. , 2022), it is yet unclear whether all dependence can be removed (Zaidi and Mathieson, 2020).”
Background
Genetic analysis and natural history of Parkinson’s disease due to the LRRK2 G2019S variant
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“34,35 Participants without a PD diagnosis after 42 months or those lost to follow-up, were right censored and age at their last completed survey was used as the time of censoring.”
Method
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“Detailed methods for how PRSs were generated have already been extensively documented 81 and will not be reproduced here.”
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“Brie ﬂ y, PRS AD represents the Z-standardized sum of each participant ’ s number of AD-related alleles (including the well-known APOE e 4 polymorphism) weighted by the strength of each allele ’ s association with AD (34).”
Method
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“The predictive performance of PRS for these six diseases is shown in Thompson et al. 112 .”
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“Food Intake and Parkinson’s Figure 1 and eTable 6 in Data S1 show the HR and 95% CI for the associations between the food groups that compose the scores and risk of PD. Participants in the top quintile of vegetable intake had a 28% lower risk of PD compared to the lowest quintile (HR = 0.72; 95% CI, 0.55–0.94; P-trend…”
MethodInfluential
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“Thisset was extracted using a selection method previously described by Thompson et al. 31 .”
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“Forinstance,mostparticipantsin theUKBiobankcohortareofEuropeanorigin,andtendtobehealthierand wealthierthanthegeneralUKpopulation 49 .”
Influential
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“…index, multi-morbidity index, genetic risk of T2D (polygenic risk score (PRS) generated and issued by the UK Biobank for use upon request [17, 18]), Townsend deprivation index, family history of diabetes, hypercholesterolemia, hypertension, menopausal status, number of completed dietary…”
Background
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“Two of these, the Standard and Enhanced PRSs , were downloaded from the UK Biobank having been generated and deposited in the UKBiobank as described by Thompson and colleagues 78 (Categories 301 and 302).”
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“Detailed information on how the PRS was generated has been described previous by Thompson et al. [25].”
Method
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“The standard PRS for AD was calculated by meta-analyzing two external genome wide association study sources, which could be used for assessing the AD genetic susceptibility, and a higher PRS indicated more risk for AD [30].”
Method
A full life cycle biological clock based on routine clinical data and its impact in health and diseases
Wang, K., Liu, F., Wu, W., Hu, C., Shen, X., Wang, M., Li, G., Zeng, F., Liu, L., Wong, I. N., et al. (2025) · Nature Medicine · doi:10.1038/s41591-025-04006-w · Cited by 35 · see citing works
“This study highlights the potential of EHRFormer as a powerful tool for predicting BA across the full life cycle, providing novel insights into aging processes and their association with disease risks 30,32,33 .”
Large-Scale Plasma Proteomics Profiles for Predicting Ischemic Stroke Risk in the General Population
Gan, X.-Q., Yang, S.-S., Zhang, Y.-Y., Ye, Z.-L., Zhang, Y.-J., Xiang, H., Huang, Y., Wu, Y.-T., Zhang, Y.-W., & Qin, X. (2024) · Stroke · doi:10.1161/strokeaha.124.048654 · Cited by 27 · see citing works
Sleep patterns, physical activity, genetic susceptibility, and incident rheumatoid arthritis: a prospective cohort study
Ni, J., Zhou, Q., Meng, S., Zhou, T.-D., Tian, T., & Pan, H.-F. (2024) · BMC Medicine · doi:10.1186/s12916-024-03615-5 · Cited by 27 · see citing works
“We obtained the released standard GRS for RA from UK Biobank [21].”
Method
Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia
Zhang, Y.-R., Wu, B., Chen, S., Yang, L., Deng, Y., Guo, Y. X., Wu, X., Liu, W., Kang, J., Feng, J., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.14181 · Cited by 28 · see citing works
A transfer learning approach based on random forest with application to breast cancer prediction in underrepresented populations.
Gu, T., Han, Y., & Duan, R. (2022) · Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · doi:10.1142/9789811270611_0018 · Cited by 26
Association of cognitive reserve with the risk of dementia in the UK Biobank: role of polygenic factors
Yang, W.-Z., Wang, J., Dove, A., Dunk, M. M., Qi, X., Bennett, D. A., & Xu, W.-L. (2024) · British Journal of Psychiatry · doi:10.1192/bjp.2024.13 · Cited by 24 · see citing works
TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice
Matatall, K. A., Wathan, T. K., Nguyen, M., Chen, H., McDonald, A., Qi, G., Belk, J. A., Florez, M. A., Le, D. T., Olarinde, T., et al. (2025) · Cell Stem Cell · doi:10.1016/j.stem.2025.06.006 · Cited by 23 · see citing works
Insulin resistance-related indices, genetic risk, and the risk of cardiovascular disease in individuals with preclinical or clinical obesity: a large prospective cohort study in the UK biobank
Hu, J., Shang, C., Huang, Y., Sun, C., & Zhang, J. (2025) · Cardiovascular Diabetology · doi:10.1186/s12933-025-02961-9 · Cited by 20 · see citing works
“Individuals with higher PRS tend to exhibit a greater genetic risk for developing diseases [27, 41].”
Air Pollution, Genetic Susceptibility, and Risk of Incident Systemic Lupus Erythematosus: A Prospective Cohort Study
Xing, M.-Q., Ma, Y., Cui, F.-P., Li, D.-K., Wang, J.-N., Tang, L.-X., Zheng, L., Yang, J., & Tian, Y.-H. (2024) · Arthritis & Rheumatology · doi:10.1002/art.42929 · Cited by 23
“30 The PRS algorithms are based on trait-speci ﬁ c meta-analyses using a Bayesian approach, in which appropriate data are combined across multiple ancestries and associated characteristics.”
Genetic susceptibility modifies the association of long-term air pollution exposure on Parkinson’s disease
Huang, Y., Ma, Y., Gao, P., Cui, X.-H., Hou, J., Chi, H., Fu, Y., Wang, Z., Feng, J., Cheng, W., et al. (2024) · npj Parkinson s Disease · doi:10.1038/s41531-024-00633-1 · Cited by 23 · see citing works
“Thompson et al. generated a Standard PRS Set, calculated on all UKB individuals, for 28 diseases and eight quantitative traits by meta-analyzing multiple external GWAS sources 42 .”
Method
Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traits
Ge, Y., Wu, B., Zhang, Y., Chen, S.-D., Zhang, Y.-R., Kang, J., Deng, Y., Ou, Y., He, X., Zhao, Y., et al. (2023) · Nature Human Behaviour · doi:10.1038/s41562-023-01722-6 · Cited by 28 · see citing works
“To evaluate the association between genetic liability to neuropsychiatric disorders and ventricular traits, we leveraged the standard PRS for AD, PD, BP and SCZ provided by UKB in the PRS Release (Category 301) 110 .”
Omega-3 Fatty Acids as Protective Factors for Age-related Macular Degeneration: Prospective Cohort and Mendelian Randomization Analyses
Xue, C.-C., Li, H.-T., Yu, M., Chong, C., Fan, Q., Tham, Y., Cheung, C. M. G., Wong, T. Y., Chew, E. Y., & Cheng, C.-Y. (2024) · Ophthalmology (Rochester, Minn.) · doi:10.1016/j.ophtha.2024.12.005 · Cited by 21 · see citing works
Effectiveness and feasibility of cardiovascular disease personalized prevention on high polygenic risk score subjects: a randomized controlled pilot study
Viigimaa, M., Jürisson, M., Pisarev, H., Kalda, R., Alavere, H., Irs, A., Saar, A., Fischer, K., Läll, K., Kruuv-Käo, K., et al. (2022) · European Heart Journal Open · doi:10.1093/ehjopen/oeac079 · Cited by 24 · see citing works
Association of sarcopenia with the long‐term risk of atrial fibrillation: A prospective cohort study
Tang, Y., Liu, Z., Chen, Q., Juaiti, M., Yu, Z., Liang, B., & Zha, L. (2024) · Aging Cell · doi:10.1111/acel.14198 · Cited by 20 · see citing works
Metabolic fingerprinting on retinal pigment epithelium thickness for individualized risk stratification of type 2 diabetes mellitus
Yang, S., Zhu, Z., Chen, S., Yuan, Y., He, M., & Wang, W. (2023) · Nature Communications · doi:10.1038/s41467-023-42404-1 · Cited by 23 · see citing works
“…the results, we used the upper quartile of the AMD-PRS constructed based on meta-analyzed summary statistics GWAS data as a cut-off point to divide population-I into two subgroups for separate analyses, and no association was observed when analyzing participants with the highest AMD-PRS 48,49 .”
Method
Air pollutants, genetic susceptibility and the risk of schizophrenia: large prospective study
Liu, R., Li, D.-K., Ma, Y., Tang, L., Chen, R.-Q., & Tian, Y.-H. (2024) · British Journal of Psychiatry · doi:10.1192/bjp.2024.118 · Cited by 19 · see citing works
“19 Furthermore, although validating the performance of PRS or comparing different PRS algorithms presents considerable challenges, the UK Biobank has developed and released a robust PRS evaluation tool to facilitate comprehensive and comparable assessments of predictive performance across various…”
Metabolomic and genomic prediction of common diseases in 477,706 participants in three national biobanksPreprint
Nightingale Health Biobank Collaborative Group, Barrett, J. C., Esko, T., Fischer, K., Jostins-Dean, L., Jousilahti, P., Julkunen, H., Jääskeläinen, T., Kerimov, N., Kerminen, S., et al. (2023) · medRxiv · doi:10.1101/2023.06.09.23291213 · Cited by 19 · see citing works
“metabolomics) can identify individuals at high risk of a wide range of diseases mirrors the concept of polygenic scores (PGS), which have received widespread attention as an opportunity for personalized preventative medicine (8, 22, 23).”
Background
Normal weight obesity, circulating biomarkers and risk of breast cancer: a prospective cohort study and meta-analysis
Wang, W., Wang, X.-Y., Jiang, Y., Guo, Y., Fu, P.-F., He, W., & Fu, X. (2024) · British Journal of Cancer · doi:10.1038/s41416-024-02906-1 · Cited by 18 · see citing works
“We used I 2 statistics to assess heterogeneity across studies, and the results were pooled using random-effects models when I 2 > 50%; otherwise, a ﬁ xed-effects model was used.”
Associations between blood glucose and early- and late-onset colorectal cancer: evidence from two prospective cohorts and Mendelian randomization analyses
Luo, C.-Y., Luo, J.-H., Zhang, Y.-H., Lu, B., Li, N., Zhou, Y., Chen, S., Wu, S.-L., Zhang, Q.-S., Dai, M., et al. (2024) · Journal of the National Cancer Center · doi:10.1016/j.jncc.2024.04.006 · Cited by 18 · see citing works
“Standard PRS for CRC has been recently released by the UK Biobank, as described in Thompson et al. 22 The missing values on continued covariates were replaced with the sex-speciﬁc mean value, and missing values on categorical covariates were considered as the “unknown ” category.”
Association of cardiorespiratory fitness with dementia risk across different levels of genetic predisposition: a large community‐based longitudinal study
Wang, S., Xu, L., Yang, W.-Z., Wang, J., Dove, A., Qi, X., & Xu, W.-L. (2024) · British Journal of Sports Medicine · doi:10.1136/bjsports-2023-108048 · Cited by 17 · see citing works
“…who were diagnosed with dementia within the first 3 years of follow-up (online supplemental tables 14 and 15); (3) further adjusting for statins, β -blockers, and calcium channel blockers (online supplemental tables 16 and 17); and (4) using non-imputed data (online supplemental tables 18 and 19).”
Genetic and Lifestyle Risks for Coronary Artery Disease and Long-Term Risk of Incident Dementia Subtypes
Sittichokkananon, A., Garfield, V., & Chiesa, S. T. (2025) · Circulation · doi:10.1161/circulationaha.124.070632 · Cited by 26 · see citing works
“Covariates included age, sex, level of education completed (less than secondary, secondary, or higher), socioeconomic status (Townsend deprivation index), and self-reported use of lipid, BP, or glucose-lowering medications at baseline visit.”
Sweetened Beverages, Genetic Susceptibility, and Incident Atrial Fibrillation: A Prospective Cohort Study
Sun, Y., Yu, B., Yu, Y., Wang, B., Tan, X., Lu, Y.-L., Wang, Y., Zhang, K., & Wang, N. (2024) · Circulation: Arrhythmia and Electrophysiology · doi:10.1161/circep.123.012145 · Cited by 17 · see citing works
“…the current analyses: age, sex, ethnicity (White/others), education level (university or college degree/others), the Townsend deprivation index (reflecting socioeconomic status), current smoking (yes/no), alcohol consumption (g/wk), ideal physical activity level (yes/no), sleep duration…”
Background
Relationships of Residential Distance to Major Traffic Roads with Dementia Incidence and Brain Structure Measures: Mediation Role of Air Pollution
Li, C., Gao, D.-Y., Cai, Y., Liang, J., Wang, Y., Pan, Y., Zhang, W.-Y., Zheng, F., & Xie, W. (2023) · Health Data Science · doi:10.34133/hds.0091 · Cited by 17 · see citing works
“…examine whether traffic exposures were associated with dementia incidence independently from genetic risk determinants and investigate the potential gene– environment interaction, we additionally controlled for the APOE ε 4 carrier status and polygenic risk score (PRS) of Alzheimer’s disease [40].”
Method
Deep Phenotyping of Heart Failure with Preserved Ejection Fraction Through Multi-Omics Integration
Versnjak, J., Kühne, T., Fahjen, P., Jovanović, N. D., Löber, U., Schiattarella, G. G., Wilck, N., Gerhardt, H., Müller, D. N., Edelmann, F., et al. (2025) · European Journal of Heart Failure · doi:10.1002/ejhf.70041 · Cited by 23 · see citing works
Associations of ambient air pollution with incidence and dynamic progression of atrial fibrillation.
Zhang, J.-G., Luo, L., Chen, G., Ai, B., Wu, G., Gao, Y.-H., Lip, G., Lin, H.-L., & Chen, Y. (2024) · Science of the Total Environment · doi:10.1016/j.scitotenv.2024.175710 · Cited by 16 · see citing works
All of Us diversity and scale improve polygenic prediction contextually with greatest improvements for under-represented populationsPreprint
Tsuo, K., Shi, Z., Ge, T., Mandla, R., Hou, K., Ding, Y., Paşaniuc, B., Wang, Y., & Martin, A. R. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.06.606846 · Cited by 20 · see citing works
“Briefly, we projected all AoU individuals into the PC space using pre-estimated weights of 168,899 variants 20 from the Human Genome Diversity Panel (HGDP) 52 and 1000 Genomes Project 53 .”
Association between polygenic risk for schizophrenia and retinal morphology: A cross-sectional analysis of the United Kingdom Biobank.
Blose, B. A., Silverstein, S. M., Stuart, K., Keane, P., Khawaja, A., & Wagner, S. (2024) · Psychiatry Research · doi:10.1016/j.psychres.2024.116106 · Cited by 16 · see citing works
“Description of the GWAS data, details of the meta-analysis, and PRS calculation are described in (Thompson et al., 2022).”
MethodInfluential
MSGene: a multistate model using genetic risk and the electronic health record applied to lifetime risk of coronary artery disease
Urbut, S., Yeung, M., Khurshid, S., Cho, S. J., Schuermans, A., German, J., Taraszka, K., Paruchuri, K., Fahed, A., Ellinor, P., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49296-9 · Cited by 16 · see citing works
“Data supporting these scores were entirely from external GWAS data (the Standard PRS set) as conducted by Genomics PLC (Oxford, UK) under UKB project 9659 45 .”
Influential
Plasma Proteomic Insights for Identification of Novel Predictors and Potential Drug Targets in Atrial Fibrillation: A Prospective Cohort Study and Mendelian Randomization Analysis
Peng, X.-D., Li, Y.-K., Liu, N., Xia, S., Li, X., Lai, Y., He, L., Sang, C., Dong, J.-Z., & Ma, C.-S. (2024) · Circulation: Arrhythmia and Electrophysiology · doi:10.1161/circep.124.013037 · Cited by 14 · see citing works
Proteomic prediction of common and rare diseasesPreprint
Carrasco-Zanini, J., Pietzner, M., Davitte, J., Surendran, P., Croteau-Chonka, D., Robins, C., Torralbo, A., Tomlinson, C., Fitzpatrick, N., Ytsma, C., et al. (2023) · medRxiv · doi:10.1101/2023.07.18.23292811 · Cited by 14 · see citing works
Alzheimer’s Disease polygenic risk, the plasma proteome, and dementia incidence among UK older adults
Beydoun, M. A., Beydoun, H. A., Li, Z., Hu, Y., Hooten, N. N., Ding, J., Hossain, S. A., Vieytes, C. A. M., Launer, L. J., Evans, M. K., et al. (2024) · GeroScience · doi:10.1007/s11357-024-01413-8 · Cited by 15 · see citing works
“…GWAS summary statistics that were either completely extracted from external GWAS data (the Standard PRS set) or from a combination of external and internal UK Biobank data (the Enhanced PRS set) using a Bayesian approach[24], found in: https:// www. medrx iv. org/ conte nt/https:// doi. org/ 10.”
Influential
Association of psychosocial state with subsequent risk of dementia: a prospective cohort study based on the UK Biobank
Wang, H., Wang, J., Zeng, Y., Yang, H., Chen, W., Shen, Q., & Song, H. (2024) · Alzheimer s Research & Therapy · doi:10.1186/s13195-024-01592-8 · Cited by 13 · see citing works
“The polygenic risk score (PRS) combining multiple risk genes for AD provides a quantitative measure of the genetic risk of dementia [24].”
BackgroundMethod
Latent profiles of modifiable dementia risk factors in later midlife: relationships with incident dementia, cognition, and neuroimaging outcomes
Xiong, L. Y., Alexander, M. W., Wong, Y. Y., Wu, C., Ruthirakuhan, M. T., Edwards, J. D., Lanctôt, K. L., Black, S. E., Rabin, J. S., Cogo‐Moreira, H., et al. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02685-4 · Cited by 15 · see citing works
“PRS values were centered and standardized to produce a corrected PRS value [27].”
Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings
Zheng, S.-L., Jurgens, S., McGurk, K. A., Xu, X., Grace, C., Theotokis, P., Buchan, R., Francis, C., de Marvao, A., Curran, L., et al. (2023) · medRxiv · doi:10.1101/2023.03.14.23286621 · Cited by 13
Self-citation
Prognostic evaluation of polygenic risk score underlying pan-cancer analysis: evidence from two large-scale cohorts
Xin, J., Jiang, X., Li, H., Chen, S., Zhang, Z., Wang, M., Gu, D., Du, M., & Christiani, D. C. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104454 · Cited by 22 · see citing works
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
Yiangou, K., Mavaddat, N., Dennis, J., Zanti, M., Wang, Q., Bolla, M. K., Abubakar, M., Ahearn, T. U., Andrulis, I. L., Anton‐Culver, H., et al. (2024) · Breast Cancer Research · doi:10.1186/s13058-024-01947-x · Cited by 24 · see citing works
“We also evaluated a “standard” breast cancer PRS available in the UK Biobank data, previously generated from external GWAS data [35] and was available for 222,989 individuals (Table S1B).”
Intake of Added Sugar from Different Sources and Risk of All-cause Mortality and Cardiovascular Diseases: The Role of Body Mass Index.
Shi, Z., Zhu, W.-M., Lei, Z.-Q., Yan, X.-L., Zhang, X.-Y., Wei, S., & Wang, Q. (2024) · Journal of NutriLife · doi:10.1016/j.tjnut.2024.09.017 · Cited by 12 · see citing works
Adding salt to foods and risk of psoriasis: A prospective cohort study.
Zhou, G.-W., Gan, L., Zhao, B., Fang, F., Liu, H., Chen, X., & Huang, J.-Q. (2024) · Journal of Autoimmunity · doi:10.1016/j.jaut.2024.103259 · Cited by 12 · see citing works
Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations
Topriceanu, C., Chaturvedi, N., Mathur, R., & Garfield, V. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-023-01517-3 · Cited by 12 · see citing works
“In general, UK Biobank standard and enhanced PGSs had markedly better performance in White Europeans compared to South Asians and African Caribbeans when evaluating cardiometabolic phenotypes.”
BackgroundMethodInfluential
Associations of combined polygenic risk score and glycemic status with atrial fibrillation, coronary artery disease and ischemic stroke
Kim, J., Kim, D., Bae, H., Park, B., Kang, T. S., Lim, S., Lee, S. Y., Chung, Y. H., Ryu, J. W., Lee, M., et al. (2024) · Cardiovascular Diabetology · doi:10.1186/s12933-023-02021-0 · Cited by 12 · see citing works
“Details for generating the PRS have been previously described [25].”
MethodInfluential
Metabolic profiling of frailty, associations with type 2 diabetes and interaction with genetic susceptibility
Wang, Y.-X., Chen, S., Li, Y., Lu, Q., Li, R., Chen, J.-X., Zhang, J.-J., Yu, H., Xu, H., Xie, J.-C., et al. (2025) · Cardiovascular Diabetology · doi:10.1186/s12933-025-02776-8 · Cited by 11
“The UK Biobank PRS scores were generated using a Bayesian approach applied to meta-analyzed summary statistics from external genome-wide association studies (GWAS) [19], and have been widely adopted in studies utilizing UK Biobank data [20, 21].”
Associations between serum lipids and glaucoma: a cohort study of 400 229 UK Biobank participants
Ma, Y., Wu, Y., Hu, L., Chen, W., Zhang, X., Zheng, D., Congdon, N. G., Jin, G., & Liu, Z. (2025) · British Journal of Ophthalmology · doi:10.1136/bjo-2024-326062 · Cited by 11 · see citing works
“16 In this study, we used the enhanced polygenic risk score for HDL-C, LDL-C, TC, and TG to examine the associations between genetic determinants of serum lipid and glaucoma.”
Serum albumin, genetic susceptibility, and risk of venous thromboembolism
Sun, Y.-Y., Deng, J., Ding, Y.-J., Luo, S., Li, S., Guan, Y., Cao, X., Hao, X.-J., & Hu, Y. (2024) · Research and Practice in Thrombosis and Haemostasis · doi:10.1016/j.rpth.2024.102509 · Cited by 11 · see citing works
“The weights utilized in the PRS model were obtained from a meta-analysis conducted on 4 independent VTE GWAS datasets, which comprised 29,799 cases and 475,303 controls from the Electronic Medical Records and Genomics cohorts [22].”
Method
Combining rare and common genetic variants improves population risk stratification for breast cancer
Bolze, A., Kiser, D., Barrett, K. S. S., Elhanan, G., Blitstein, J. M. S., Neveux, I., Dabe, S., Reed, H., Anderson, A., Metcalf, W., et al. (2023) · medRxiv · doi:10.1016/j.gimo.2024.101826 · Cited by 11 · see citing works
FairPRS: adjusting for admixed populations in polygenic risk scores using invariant risk minimization
Reyes, D. M., Bose, A., Karavani, E., & Parida, L. (2022) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789811270611_0019 · Cited by 6 · see citing works
“23 The fact that improvement in accuracy did not come at the expense of either group is reassuring, suggesting FairPRS is safe in the sense it might not cause more harm than using regular PRS.”
Grip strength, genetic predisposition, and Incident Parkinson’s disease: a prospective cohort study in the UK Biobank
Hu, W., Zhao, C.-H., Huang, Y., Liu, B.-P., & Jia, C.-X. (2024) · npj Parkinson s Disease · doi:10.1038/s41531-024-00810-2 · Cited by 9 · see citing works
“More detailed information on the PRS can be found in previous studies 25 – 27 .”
Method
Maternal smoking, nutritional factors at different life stage, and the risk of incident type 2 diabetes: a prospective study of the UK Biobank
Jiang, W., Tang, Y., Yang, R., Long, Y., Sun, C., Han, T., & Wei, W. (2024) · BMC Medicine · doi:10.1186/s12916-024-03256-8 · Cited by 12 · see citing works
“Moreover, we also included the genetic risk score of HbA1c based on the initial release of PRS in the UK biobank [23].”
Method
Association between pre-dementia psychiatric diagnoses and all-cause dementia is independent from polygenic dementia risks in the UK Biobank
Freudenberg‐Hua, Y., Li, W., Lee, U. J., Ma, Y., Koppel, J. L., & Goate, A. (2024) · EBioMedicine · doi:10.1016/j.ebiom.2024.104978 · Cited by 8 · see citing works
“36 We obtained these PRS for AD from the UKB data-ﬁ eld 26,206.”
Method
Alzheimer’s disease polygenic risk’s association with all-cause dementia through the plasma metabolome in the UK Biobank study
Beydoun, M., Hu, Y.-H., Li, Z.-G., Georgescu, M. F., Beydoun, H. A., Hooten, N. N., Walker, K. A., Bouhrara, M., Launer, L., Evans, M., et al. (2025) · GeroScience · doi:10.1007/s11357-025-01724-4 · Cited by 9 · see citing works
“The Standard PRS set was extracted from external GWAS data, while the Enhanced PRS set combined genetic risk from external and internal sources to the UK Biobank data[14, 15].”
Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project.
Bird, M., Rimbert, A., Pittman, A. M., Humphries, S., & Futema, M. (2024) · European Journal of Preventive Cardiology · doi:10.1093/eurjpc/zwae371 · Cited by 9 · see citing works
“All recruiting clinicians were affiliated with one of the Genomic Medical Centres, and all were experts in the field of lipidology with extensive experience in the identification and management of individuals with FH. Study participants were assigned Human Phenotype Ontology (HPO) terms at the time of recruitment to 1…”
InfluentialSelf-citation
AgeML: Age Modeling With Machine Learning
Condado, J. G., Elorriaga, I. T., Cortés, J. M., & Erramuzpe, A. (2025) · IEEE Journal of Biomedical and Health Informatics · doi:10.1109/jbhi.2025.3531017 · Cited by 11 · see citing works
“Participants with multiple comorbidities were excluded to mitigate potential mixed effects.”
Mediterranean diet, metabolic signature, genetic predisposition, and risk of rheumatoid arthritis: a large-scale population-based prospective cohort study
Song, X. Y., Ma, X., Yang, B., Zhang, D., Zou, Y., Lei, B., Xiang, R., Zhao, X., Qu, Y., Zheng, S., et al. (2025) · American Journal of Clinical Nutrition · doi:10.1016/j.ajcnut.2025.09.051 · Cited by 8 · see citing works
“The polygenic risk score (PRS) for RA was derived from validated “ Standard PRS (Category 301) ” provided in the UK Biobank Release [26,27].”
Longitudinal association of cumulative risk factors in early life, genetic risk, and healthy lifestyles during adulthood with the risk of type 2 diabetes
Hu, J., Yang, H., Liu, Y., Lu, Z., Zhang, X., Yang, H. J., Yang, Z., Wang, X., Liu, B., Cui, H., et al. (2025) · BMC Medicine · doi:10.1186/s12916-025-04025-x · Cited by 9 · see citing works
“Detailed information regarding access to these PRS data and GWAS resources can be found in an earlier study [21].”
Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer’s disease comorbidities
Hernández, C. F., Villamán, C., Leu, C., Lal, D., Mata, I. F., Klein, A. D., & Pérez‐Palma, E. (2025) · Scientific Reports · doi:10.1038/s41598-025-95755-8 · Cited by 9 · see citing works
Domestic water hardness, genetic risk, and distinct phenotypes of cardiovascular disease
Tian, F., Yu, G.-F., Yang, M.-Y., Sun, Y., Gui, Z., Zhao, X.-Y., Wang, N., Wan, H., & Peng, X. (2025) · Environmental Health · doi:10.1186/s12940-025-01166-7 · Cited by 8 · see citing works
“The genetic risk score for AF, CHD, and stroke was based on the standard polygenic risk score (PRS, field ID 26212, 26227, and 26248 in UK Biobank, respectively) supported by external genome-wide association studies data [16].”
Increased sodium consumption is associated with psoriasis: A population‐based cohort study
Chattopadhyay, A., Ye, M., Chiang, B. M., Halezeroğlu, Y., Blarigan, E. L. V., Liao, W. J., Bhutani, T., & Abuabara, K. (2025) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/jdv.20540 · Cited by 9 · see citing works
“…tested for effect modification by polygenic risk score, leveraging a psoriasis standard polygenic risk score available in UK Biobank that was previously developed from four genome-wide association studies, 31 and we examined results stratified by polygenic risk score quintile based on prior work.”
HbA1c and the Risk of Lower Limb Ulcers Among Diabetic Patients: An Observational and Genetics Study
Guo, G., Guan, Y., Chen, Y., Ye, Y., Gan, Z., Cao, X., Chen, Z., & Hao, X. (2025) · Journal of Diabetes Research · doi:10.1155/jdr/4744194 · Cited by 8 · see citing works
“As described previously, the standard PRS of HbA1c was calculated as the genome-wide sum of the per-variant e ﬀ ect size multiplied by allele dosage [32].”
Association of healthy lifestyle factors and genetic liability with bipolar disorder: Findings from the UK Biobank
Li, G., He, Q., Sun, M., Ma, Z., Zhao, H., Wang, Y., Feng, Z., Li, T., Chu, J., Hu, W., et al. (2024) · Journal of Affective Disorders · doi:10.1016/j.jad.2024.08.011 · Cited by 10 · see citing works
Spatial distribution of residential environment, genetic susceptibility, and psoriasis: A prospective cohort study
Chen, L., Chen, H., Mo, L., He, M., Zhao, Y., Tan, T., Yao, P., Tang, Y.-H., Li, X.-Z., & Li, Y.-Y. (2024) · Journal of Global Health · doi:10.7189/jogh.14.04139 · Cited by 8 · see citing works
“Another possible approach was to retrieve the psoriasis-related PRS variable directly from the UK Biobank (variable number 26269) [20].”
Background
Life’s essential 8, genetic susceptibility, and risk of inflammatory bowel diseases: a population-based cohort study
Yang, H.-H., Chang, Q., Ji, C., Zheng, G., Ma, Z., Chen, L., Xia, Y., & Zhao, Y.-H. (2024) · International Journal of Behavioral Nutrition and Physical Activity · doi:10.1186/s12966-024-01617-3 · Cited by 8 · see citing works
“The polygenic risk scores (PRS) were calculated by the UK Biobank team [22].”
Method
Association of Blood Pressure With Brain Ages: A Cohort Study of Gray and White Matter Aging Discrepancy in Mid-to-Older Adults From UK Biobank
Du, J., Pan, Y., Jiang, J.-Y., Liu, Y., Lam, B. C. P., Schutte, A., Tsang, I., Sachdev, P. S., & Wen, W. (2024) · HYPERTENSION · doi:10.1161/hypertensionaha.123.22176 · Cited by 8 · see citing works
Dietary carbohydrate types, genetic predisposition, and risk of adult-onset asthma: A longitudinal cohort study
Zhang, H., Zhang, X., Yang, H., Yang, H., Zhang, T., Chen, L., Zhao, Y., & Xia, Y. (2024) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2024.129824 · Cited by 9 · see citing works
Long-term exposure to ambient benzene and incident type 2 diabetes mellitus in a national cohort: The modifying effect of genetic susceptibility
Xiao, Z., Li, Q., Guo, X., Long, G., Meng, Z., & Xu, C. Y. (2025) · Environmental Research · doi:10.1016/j.envres.2025.122197 · Cited by 10 · see citing works
Combining polygenic and clinical risk scores in atrial fibrillation risk prediction: Implications for population screening
Segan, L. A., Ho, W. W. H., Crowley, R. F., William, J., Cho, K. K., Prabhu, S., Chieng, D., Sugumar, H., Voskoboinik, A., Ling, L., et al. (2025) · Heart Rhythm · doi:10.1016/j.hrthm.2025.04.032 · Cited by 10 · see citing works
Plasma protein-based and polygenic risk scores serve complementary roles in predicting inflammatory bowel disease
Woerner, J., Westbrook, T. M., Jeong, S., Shivakumar, M., Greenplate, A., Apostolidis, S. A., Lee, S., Nam, Y., & Kim, D. (2024) · Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · doi:10.1142/9789819807024_0037 · Cited by 7
“The PRS model was based on scores from Thompson et al., 30 which were added as predictors to an unpenalized logistic regression with the covariates.”
Association of obesity and metabolic syndrome with incident primary open angle glaucoma in the UK Biobank
Macri, C., Wong, C. X., Tu, S., Sun, D. F., Casson, R. J., Singh, K., Wang, S. Y., & Sun, M. T. (2024) · Clinical and Experimental Ophthalmology · doi:10.1111/ceo.14467 · Cited by 7 · see citing works
Daytime napping and the incidence of Parkinson’s disease: a prospective cohort study with Mendelian randomization
Lin, F., Shi, Y., Song, W., Weng, Y., Zou, X., Chen, X., Zheng, J., Chen, K., Ye, Q., Wu, X., et al. (2024) · BMC Medicine · doi:10.1186/s12916-024-03497-7 · Cited by 8 · see citing works
“We here used the standard PRS for PD released by the UK Biobank (Field ID: 26,260), which was extracted from an external GWAS meta-analysis dataset, as described by Thompson et al. [25]; these authors had calculated PRS for 28 diseases and 25 quantitative traits.”
Method
Associations between dietary one-carbon metabolism nutrients, genetic risk, with Alzheimer's disease: a prospective cohort study.
Wang, Y.-S., Mi, N., Liao, K., Li, Y., Sun, Y., Xie, P., Hu, L., Wu, S., Liang, Z.-X., He, Q., et al. (2024) · American Journal of Clinical Nutrition · doi:10.1016/j.ajcnut.2024.08.027 · Cited by 7 · see citing works
Night shift work and myocardial infarction in the UK Biobank
Yang, M. J., Jia, Z. W., Wang, E., Li, J., Tang, A. M., Song, Z., & Zhang, Z. (2024) · Occupational Medicine · doi:10.1093/occmed/kqae045 · Cited by 7 · see citing works
Green space, genetic susceptibility, and risk of osteoporosis:a cohort study from the UK Biobank.
Yao, X.-I., Tong, X., Shen, C., Song, Y., Sun, S.-Z., Chen, K., & Shen, H. (2024) · Chemosphere · doi:10.1016/j.chemosphere.2024.141632 · Cited by 7 · see citing works
Association of Cardiovascular Health with the Incidence of Venous Thromboembolism: A Prospective Study of 275,149 Participants from the UK Biobank
Liang, B., Zha, L., Peng, B., Chen, Q., Juaiti, M., Zeng, X., Feng, Y., Yu, Z., & Tang, Y. (2024) · Thrombosis and Haemostasis · doi:10.1055/a-2305-6631 · Cited by 9 · see citing works
“16 We found that there were some overlapping pathogenic SNPs between our PRS model and previously published PRS models, such as classical FVLeidenmutation(rs6025),prothrombinG20210Amutation (rs1799963), and ﬁ brinogen gamma chain mutation (rs2066865).”
Gattaca as a lens on contemporary genetics: marking 25 years into the film’s “not-too-distant” future
Ogbunugafor, C. B., & Edge, M. D. (2022) · Genetics · doi:10.1093/genetics/iyac142 · Cited by 7 · see citing works
“…human height, a titanic meta-analysis of 5.4 million people has led to a genetic predictor—i.e. a “polygenic score” (see Box 2 for background) (Torkamani et al. 2018; Thompson et al. 2022)—that explains 40% of the variance in height in a sample of people of European ancestries (Yengo et al. 2022).”
Influential
Associations of eight insulin resistance-related indices and genetic risk with incident cardiometabolic multimorbidity among participants with hypertension: a large prospective cohort study
Ma, S., Jiang, M., Xuan, Y., Shen, Y., Chen, K., & Li, B. (2026) · Cardiovascular Diabetology · doi:10.1186/s12933-026-03154-8 · Cited by 8 · see citing works
“The UK Biobank has made available standard polygenic risk scores (PRSs) for 53 diseases and traits, which provide strong capacity for risk stratification [59].”
Characterizing spatiotemporal white matter hyperintensity pathophysiology in vivo to disentangle vascular and neurodegenerative contributionsPreprint
Parent, O., Alasmar, Z., Osborne, S., Bussy, A., Costantino, M., Fouquet, J. P., Quesada, D., Pastor-Bernier, A., Fajardo-Valdez, A., Binette, A. P., et al. (2025) · medRxiv · doi:10.1101/2025.06.10.25329342 · Cited by 6 · see citing works
“41,76 We used the standard PRS calculated on all UK Biobank participants.”
Ultra-Processed Food Consumption and the Risk of Psoriasis: A Large Prospective Cohort Study
Peng, X., Li, X.-Z., He, J., He, M., Ning, N., Chen, L., Yao, P., Tang, Y.-H., & Li, Y.-Y. (2025) · Nutrients · doi:10.3390/nu17091473 · Cited by 6 · see citing works
Plasma proteomic signatures for type 2 diabetes and related traits in the UK Biobank cohort
Gupte, T. P., Azizi, Z., Kho, P. F., Zhou, J., Nzenkue, K., Chen, M., Panyard, D. J., Guarischi‐Sousa, R., Hilliard, A. T., Sharma, D., et al. (2024) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2025.112194 · Cited by 10 · see citing works
Accelerated biological aging and risk of inflammatory bowel disease: A prospective study from 401,013 participants
Cao, B., Zhao, X., Lu, Z., & Zhang, H. (2025) · The journal of nutrition health & aging · doi:10.1016/j.jnha.2025.100505 · Cited by 8 · see citing works
Understanding the causes and consequences of low statin adherence: evidence from UK Biobank primary care data
Türkmen, D., Liang, X., Masoli, J. A. H., Gill, D., Pilling, L. C., & Bowden, J. (2025) · BMC Medicine · doi:10.1186/s12916-025-04228-2 · Cited by 6 · see citing works
“We also included polygenic scores (PGS) derived by Genomics PLC [25] (UKB category 301): 8 PGS for relevant biomarkers and patient characteristics (e.g. LDL-c, BMI) and 28 PGS for genetic liability to disease (e.g. CVD, schizophrenia).”

Authors: Thompson, D. J., Wells, D., Selzam, S., Peneva, I., Moore, R., Sharp, K., Tarran, W. A., Beard, E. J., Riveros-Mckay, F., Giner-Delgado, C., Palmer, D., Seth, P., Harrison, J., Futema, M., Genomics England Research Consortium, McVean, G., Plagnol, V., Donnelly, P., & Weale, M. E.
Affiliations: Genomics (United Kingdom) (GB)
St George's, University of London (GB)
Corresponding author: Weale, Michael E.
ORCID: Thompson, Deborah J.
Wells, Daniel
Selzam, Saskia
Moore, Rachel
Sharp, Kevin
Tarran, William A.
Beard, Edward J.
Riveros-Mckay, Fernando
Giner-Delgado, Carla
Palmer, Duncan
Seth, Priyanka
Futema, Marta
McVean, Gil
Plagnol, Vincent
Donnelly, Peter
Weale, Michael E.
Venue: medRxiv
Publisher: openRxiv
Published: 2022-06-16
DOI: 10.1101/2022.06.16.22276246
OpenAlex: W4283067507
Cited by: 280
References: 41
Citations by year: 2026: 47 · 2025: 84 · 2024: 109 · 2023: 32 · 2022: 8
Type: posted content
Language: en
Open access: green
doi.org
Licence: cc-by
Locations: medRxiv (acceptedVersion, cc-by)
Funders: Medical Research Council (MC_PC_17228)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: polygenic risk score, UK Biobank, disease risk prediction, quantitative traits, genetic risk prediction, clinical utility

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